Canonical Allele Identifier: CA392164002

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601511A>T , CM000677.2:g.43601511A>T GRCh38
NC_000015.9:g.43893709A>T , CM000677.1:g.43893709A>T GRCh37
NC_000015.8:g.41681001A>T NCBI36
NG_011636.1:g.22290T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4586T>A (STRC) MANE Select ENSP00000401513.2:p.Leu1529Gln
ENST00000411560.1:n.142+1978A>T (CKMT1B)
ENST00000428650.5:c.*1619T>A (STRC) ENSP00000415991.1:n.*1619T>A
ENST00000440125.5:c.*2378T>A (STRC) ENSP00000394866.1:n.*2378T>A
ENST00000448437.6:n.1706T>A (STRC)
ENST00000450892.6:c.4586T>A (STRC) ENSP00000401513.2:p.Leu1529Gln
ENST00000460952.1:n.165T>A (STRC)
ENST00000471703.5:n.2540T>A (STRC)
ENST00000485556.5:n.3441T>A (STRC)
ENST00000493750.1:n.382T>A (STRC)
ENST00000541030.5:c.2267T>A (STRC) ENSP00000440413.1:p.Leu756Gln
NM_153700.2:c.4586T>A (STRC) MANE Select NP_714544.1:p.Leu1529Gln
XM_011521277.1:c.5075T>A (STRC) XP_011519579.1:p.Leu1692Gln
XM_011521278.1:c.4691T>A (STRC) XP_011519580.1:p.Leu1564Gln
XM_011521279.1:c.4691T>A (STRC) XP_011519581.1:p.Leu1564Gln